Variant report

Variant	rs1792316
Chromosome Location	chr11:71167820-71167821
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71167353..71169049-chr11:71183186..71185493,2	K562	blood:
2	chr11:71156877..71159140-chr11:71167265..71169194,2	K562	blood:
3	chr11:71166687..71169492-chr11:71189793..71191469,2	MCF-7	breast:
4	chr11:71141203..71142816-chr11:71167410..71170126,2	K562	blood:
5	chr11:71166959..71169196-chr11:71181524..71183295,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172890	Chromatin interaction
ENSG00000172893	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1044535	0.97[GIH][hapmap];0.94[EUR][1000 genomes]
rs10751102	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10792743	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10898117	1.00[ASW][hapmap];0.97[GIH][hapmap];0.84[MKK][hapmap];0.94[EUR][1000 genomes]
rs11233606	0.94[EUR][1000 genomes]
rs11608138	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.92[MKK][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12281481	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1623080	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1626291	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790325	0.97[GIH][hapmap];0.94[EUR][1000 genomes]
rs1790326	0.94[EUR][1000 genomes]
rs1790327	0.94[EUR][1000 genomes]
rs1790329	0.94[EUR][1000 genomes]
rs1790334	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.85[MEX][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790337	0.90[ASW][hapmap];0.97[GIH][hapmap];0.81[MKK][hapmap];0.84[EUR][1000 genomes]
rs1790346	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1790347	0.94[EUR][1000 genomes]
rs1790348	0.94[EUR][1000 genomes]
rs1790351	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1790354	0.94[EUR][1000 genomes]
rs1790355	0.94[EUR][1000 genomes]
rs1790356	0.89[EUR][1000 genomes]
rs1790357	0.94[EUR][1000 genomes]
rs1790373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792265	0.94[EUR][1000 genomes]
rs1792268	0.94[EUR][1000 genomes]
rs1792270	0.97[GIH][hapmap];0.94[EUR][1000 genomes]
rs1792271	0.94[EUR][1000 genomes]
rs1792272	0.94[EUR][1000 genomes]
rs1792273	1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.94[EUR][1000 genomes]
rs1792274	0.94[EUR][1000 genomes]
rs1792275	0.97[GIH][hapmap];0.94[EUR][1000 genomes]
rs1792276	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792279	0.97[EUR][1000 genomes]
rs1792285	0.94[EUR][1000 genomes]
rs1792319	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2002906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2155425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2186773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2186778	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2282617	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2282618	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2282619	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2298772	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2511279	0.82[EUR][1000 genomes]
rs2851693	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763859	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763860	0.89[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3794065	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3794066	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3794067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3814731	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3814734	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944063	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944064	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944075	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944080	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944997	1.00[CEU][hapmap]
rs4944999	0.88[ASN][1000 genomes]
rs4945001	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4945007	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4945013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592154	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6592180	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7110053	0.94[EUR][1000 genomes]
rs7110316	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7113783	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7123973	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7124675	0.94[EUR][1000 genomes]
rs7129099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs751389	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs760241	0.97[GIH][hapmap];0.94[EUR][1000 genomes]
rs7690	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7926054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7950584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs949176	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs949177	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949178	0.90[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1037357	chr11:71162241-71209628	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv541085	chr11:71162241-71209628	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1052432	chr11:71167449-71213007	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1792316	NADSYN1	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71165000-71210000	Weak transcription	Psoas Muscle	Psoas
2	chr11:71165200-71169800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:71165200-71169800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:71165200-71177400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:71165200-71177600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:71165200-71199200	Weak transcription	Right Atrium	heart
7	chr11:71165400-71170000	Weak transcription	Small Intestine	intestine
8	chr11:71165400-71194200	Weak transcription	Fetal Heart	heart
9	chr11:71165800-71168200	Strong transcription	Hela-S3	cervix
10	chr11:71165800-71168600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:71165800-71168800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:71165800-71169400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:71165800-71170000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:71165800-71171200	Strong transcription	K562	blood
15	chr11:71165800-71171800	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr11:71165800-71172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:71165800-71173000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:71165800-71174000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:71165800-71175800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:71165800-71178200	Strong transcription	NHLF	lung
21	chr11:71165800-71178400	Strong transcription	Fetal Stomach	stomach
22	chr11:71165800-71179200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:71165800-71179200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:71165800-71179200	Strong transcription	Fetal Muscle Leg	muscle
25	chr11:71165800-71180400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:71166000-71168000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:71166000-71169400	Strong transcription	NHEK	skin
29	chr11:71166000-71169600	Strong transcription	Placenta	Placenta
30	chr11:71166000-71171400	Strong transcription	Brain Angular Gyrus	brain
31	chr11:71166000-71171600	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr11:71166000-71171600	Strong transcription	Brain Germinal Matrix	brain
33	chr11:71166000-71172000	Strong transcription	Fetal Brain Female	brain
34	chr11:71166000-71173000	Strong transcription	Osteobl	bone
35	chr11:71166000-71173600	Strong transcription	HSMM	muscle
36	chr11:71166000-71173800	Strong transcription	Brain Substantia Nigra	brain
37	chr11:71166000-71175400	Strong transcription	Brain Cingulate Gyrus	brain
38	chr11:71166000-71175600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:71166000-71176000	Strong transcription	Brain Anterior Caudate	brain
40	chr11:71166000-71178400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:71166000-71178600	Strong transcription	Primary T cells from cord blood	blood
42	chr11:71166000-71178600	Strong transcription	Spleen	Spleen
43	chr11:71166000-71179200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:71166000-71180000	Strong transcription	A549	lung
45	chr11:71166000-71180200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:71166000-71180200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr11:71166000-71194200	Weak transcription	Fetal Brain Male	brain
48	chr11:71166200-71168200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:71166200-71168200	Weak transcription	Stomach Mucosa	stomach
50	chr11:71166200-71168400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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